Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries.

Newborn screening (NBS) for Krabbe disease (KD) is currently underway in eight states in the USA, and there is continued discussion of whether to implement KD NBS in additional states. Workgroup members sought to survey a large number of families affected by KD. Families in KD and leukodystrophy family registries were contacted to seek their participation in The Krabbe Newborn Screening-Family Perspective Survey. The 170 respondents are comprised of the following: 138 family members with a KD individual diagnosed after development of symptoms, 20 notified about KD via NBS, and 12 with a KD individual diagnosed through family history of KD. The key results are that all NBS families with an early-infantile KD family member elected to pursue hematopoietic stem cell transplantation therapy. Of the 170 responders, 165 supported the implementation of KD NBS in all states in the USA.

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network.

The leukodystrophies are a heterogeneous group of inherited diseases characterized by progressive demyelination of the central nervous system leading to devastating neurologic symptoms and premature death. Hematopoietic stem cell transplantation (HSCT) has been successfully used to treat certain leukodystrophies, including adrenoleukodystrophy, globoid leukodystrophy (Krabbe disease), and metachromatic leukodystrophy, over the past 30 years. To date, these complex patients have primarily been transplanted at a limited number of pediatric centers. As the number of cases identified through pregnancy and newborn screening is increasing, additional centers will be required to treat these children. Hunter's Hope created the Leukodystrophy Care Network in part to create and standardize high-quality clinical practice guidelines to guide the care of affected patients. In this report the clinical guidelines for the care of pediatric patients with leukodystrophies undergoing treatment with HSCT are presented. The initial transplant evaluation, determination of patient eligibility, donor selection, conditioning, supportive care, and post-transplant follow-up are discussed. Throughout these guidelines the need for early detection and treatment and the role of the partnership between families and multidisciplinary providers are emphasized.

Clinical management of Krabbe disease.

Krabbe disease (KD) is a rare neurodegenerative disorder caused by mutations in the gene encoding the galactocerebrosidase enzyme. The early- and late-infantile subtypes, which are the most common forms of the disease, are rapidly progressive and lead to early death, whereas the later-onset types are clinically heterogeneous. The only disease-modifying treatment currently available is hematopoietic stem cell transplantation, which is effective only when performed early in the course of the disease. Because most patients with KD are diagnosed too late for treatment, primary care physicians are faced with the challenge of caring for a child with severe neurologic impairment. This Review describes presenting symptoms, diagnosis, and disease manifestations of KD and provides basic guidelines for its management. Symptomatic treatment and supportive care that address the unique requirements of these patients can greatly improve the quality of life of patients and their families. © 2016 Wiley Periodicals, Inc.

Efficacy of a drug prevention CD-ROM intervention for adolescents.

The purpose of the present study was to examine the efficacy of a substance abuse-preventive intervention using CD-ROM technology among adolescents in the sixth and seventh grades (12- to 13-years-old). The CD-ROM program used interactive audio and video content to teach social resistance skills, general personal and social competence skills, and normative education. Rates of substance-use behavior attitudes, knowledge, normative expectations, and related variables were examined. From approximately 23 schools, students (n = 123) were randomly assigned to either receive the CD-ROM preventive intervention (n = 61) or to serve as a control group (n = 62). Study participants were 50% male, predominantly white (75%), and 94% came from two-parent families. Self-report data were collected using a self-administered web-based survey. Findings indicated that there were significant intervention effects on pro-drug attitudes, normative expectations for peer and adult substance use, anxiety reduction skills, and relaxation skills knowledge, with intervention students reporting improved scores on these outcomes at the posttest relative to control students. Findings indicate that a substance abuse-preventive intervention derived from an effective, school-based prevention approach is efficacious when delivered using CD-ROM technology. Research is needed to determine potential differences in the efficacy of CD-ROM prevention tools delivered in schools compared to home settings.